Harringtondamborg1271

Familial Adenomatous Polyposis accounts for 20 years of age. Endoscopy is essential for the diagnosis with definitive treatment involving prophylactic total colectomy. With current surgical advances, this is routinely being performed with the aid of laparoscopy. Due to resource limitations and non-availability of the screening programs in the developing world, such cases remain under diagnosed. Genetic testing is necessary for prognostication of both the index case and their at-risk family members. Thus, we present a rare case of an eight-year-old female, with an early onset progression to colorectal cancer with Familial Adenomatous Polyposis. We performed a prophylactic laparoscopic total procto-colectomy with ileo-anal anastomosis, which to our knowledge is the first ever-performed procedure in Pakistan. We conclude that progression to colorectal carcinoma in familial adenomatous polyposis can present at an earlier age than that reported in the literature. Laparoscopic total colectomy has similar outcomes than open surgical methods with better cosmetic results.Bartter syndrome is a rare disorder characterized by reduced sodium chloride transport in the distal nephrons of the kidney. Its clinical features are renal salt wasting, hypokalemic metabolic alkalosis, elevated renin and aldosterone levels with normal or low blood pressure, polyuria, hypercalciuria and malnutrition. The pathophysiologic and biochemical changes in these patients should be kept in mind when considering anaesthetic management. This case report describes our management in a nineteen months old, 3.6 kg weight male child with Bartter's syndrome who underwent elective repair of hiatal hernia and gastrostomy.Human Immunodeficiency Virus associated neurocognitive dysfunction can present as a case of movement disorder in a patient with prolonged antiretroviral therapy. Diagnosis was made after ruling out space occupying lesions, nutritional deficiencies and infectious causes through brain imaging and cerebrospinal fluid analysis. With multidisciplinary care and change of antiretroviral therapy to drugs with higher cerebrospinal fluid penetration, symptoms of the patient improved over a span of six months. Delayed neurological damage due to Human Immunodeficiency Virus can present with isolated cerebellar symptoms.Mounier-Kuhn Syndrome (MKS) is a rare disorder derived from the muscular and elastic tissue defects of the trachea and the main bronchial walls, characterized by tracheobronchomegaly. Patients may present with complaints of cough, phlegm, dyspnoea and haemoptysis. Haemoptysis may be minor and mixed with phlegm or it may be massive. Establishment of airway patency is a priority in the management of massive haemoptysis. Cold saline solution, diluted adrenaline or tranexamic acid may be administered via the endobronchial route to stop haemorrhage while establishing the airway patency. Ankaferd Blood Stopper (ABS) has a haemostatic property and can be locally administered to the airway. In this report, we aim to highlight the effects of ABS administered via an endobronchial route for emergency palliation of a patient with MKS presenting with massive haemoptysis.Objective of the study was to determine the effects of McConnell taping combined with strengthening exercises of vastus medialis oblique muscle in females with Patellofemoral Pain Syndrom. Females with Patellofemoral Pain Syndrome with an age group of 25-45 years having a less than 30/80 score on a Lower Extremity Functional Index (LEFI), anterior knee pain and painful/limited range of motion (ROM) at knee, were included in the study. A total of 51 subjects were randomly assigned into two groups. They were assigned a 30-40 minute per session for 5 days per week over a length of 2 weeks. Numeric Pain Rating Scale, Lower Extremity Functional Index and Goniometry tools were used to assess the measure of interest. These samples only comprised of females with a mean age of 36.04+7.35 years. After 2 weeks, significant improvement was recorded in the Numeric Pain Rating Scale (NPRS) (p less then 0.001) and Lower Extremity Functional Index (LEFI) (p less then 0.001). Flexion range of motion of the knee also improved significantly. No statistically significant difference in extension range of the knee was noted in either groups as it was normal at base line.This study aims to observe the spectrum of Prenatal Diagnosis of Rare Genetic conditions at a Tertiary care hospital in Karachi. This is a retrospective review conducted at the Aga Khan University Hospital, Karachi from January 2016 to July 2018. All cases undergoing invasive testing by Chorionic villus sampling for indications other than Thalassemia were included. Forty percent of patients in our cohort underwent invasive testing for muscular dystrophies particularly survival motor neuron (SMN) gene deletion and 32% for Cystic Fibrosis. Other rare disorders like JAM 3 mutation, PEX 1 gene, Barters Syndrome, Wardenberg, Bardet-Beidl Syndrome and Lissencephaly accounted for 28%. Sophistication in laboratory technology and DNA banking has improved the prenatal diagnosis of rare genetic disorders particularly SMN gene deletion. Integrated care involving foetal medicine specialist, Paediatric geneticist, and dedicated Laboratory personnel improves Counseling and Diagnosis of rare genetic conditions. Provision of dedicated nursing staff along with strengthening of welfare facility for non-affording patients would improve the uptake of invasive testing.The current study was planned to assess how the integration of brief cognitive behaviour therapy (CBT) with hypnotherapy can be productive for a client's quick progress in treatment. It illustrates the effectiveness of two methods of treatment integrated to make better prognosis in the treatment of a depressed Pakistani housewife aged 25 years, who had been suffering for a year. The sessions included hypnotic induction, teaching self-hypnosis with positive suggestions, mood monitoring, use of imagery and relaxation techniques along with specific strategies of brief CBT. selleck chemicals Predominant feature of her clinical presentation was the belief of being unloved, and the negative thoughts of being devalued by the husband. Hypnotherapy contributed to achieving remarkable therapeutic progress in a relatively short time. At initial presentation, the depressive symptoms were extremely high as demonstrated by psychological assessment tests and Beck Depression Inventory (BDI). Subsequent test results indicated that she had returned to normal level of functioning (81-90) as assessed through the Global Assessment of Functioning Scale (GAFS).